Canonical Allele Identifier: CA619417540

Gene: CHRNA3

Linked Data

• dbSNP Id: rs1463722686
• gnomAD v2: 15-78894186-GGGCAGGTAGAAGACGAGCACAGTGAGGAA-G
• gnomAD v3: 15-78601844-GGGCAGGTAGAAGACGAGCACAGTGAGGAA-G
• gnomAD v4: 15-78601844-GGGCAGGTAGAAGACGAGCACAGTGAGGAA-G
• MyVariant Identifiers: chr15:g.78894187_78894215del (hg19) ; chr15:g.78601845_78601873del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78601847_78601875del , CM000677.2:g.78601847_78601875del	GRCh38
NC_000015.9:g.78894189_78894217del , CM000677.1:g.78894189_78894217del	GRCh37
NC_000015.8:g.76681244_76681272del	NCBI36
NG_016143.1:g.24423_24451del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326828.6:c.769_797del MANE Select	ENSP00000315602.5:p.Phe257LeufsTer5
ENST00000326828.5:c.769_797del	ENSP00000315602.5:p.Phe257LeufsTer5
ENST00000348639.7:c.769_797del	ENSP00000267951.4:p.Phe257LeufsTer5
ENST00000558903.1:n.476_504del
ENST00000559658.5:c.769_797del	ENSP00000452896.1:p.Phe257LeufsTer5
NM_000743.4:c.769_797del	NP_000734.2:p.Phe257LeufsTer5
NM_001166694.1:c.769_797del	NP_001160166.1:p.Phe257LeufsTer5
NR_046313.1:n.1270_1298del
XM_006720382.1:c.568_596del	XP_006720445.1:p.Phe190LeufsTer5
XM_011521173.1:c.688_716del	XP_011519475.1:p.Phe230LeufsTer5
XM_006720382.3:c.568_596del	XP_006720445.1:p.Phe190LeufsTer5
NM_000743.5:c.769_797del MANE Select	NP_000734.2:p.Phe257LeufsTer5
NM_001166694.2:c.769_797del	NP_001160166.1:p.Phe257LeufsTer5
NR_046313.2:n.971_999del